Full-term live birth in a woman with 17α-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report.
In: BMC women's health, Jg. 23 (2023-08-04), Heft 1, S. 408
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Zugriff:
Background: 17α-hydroxylase deficiency, which is caused by a CYP17A1 gene mutation, is a rare type of congenital adrenocortical hyperplasia that mainly manifests as hypertension, hypokalaemia and sexual dysplasia. To date, few pregnancies associated with this syndrome have been reported.
Case Presentation: We describe a 35-year-old Chinese woman with nonclassical congenital adrenal hyperplasia (NCCAH) due to 17α-hydroxylase/17,20-lyase deficiency who achieved pregnancy after in vitro fertilization (IVF) and frozen-thawed embryo transfer. She had secondary amenorrhea since she was 27, and subsequently, high level of progesterone in the follicular phase was found during a blood test. A compound heterozygous mutation was found in the CYP17A1 gene, c.1263G > A and c.985_987delinsAA. The patient was given standardized treatment with dexamethasone. Due to ovulation disorder, IVF was performed. She underwent whole embryo vitrification freezing. Frozen-thawed embryo transplantation was performed following the artificial cycle protocol of endometrium preparation, resulting in a singleton pregnancy. At 39 weeks and 1 day of gestation, caesarean section was performed due to the breech position of the foetus.
Conclusion: A high level of progesterone reduces endometrial receptivity. Standardized treatment with dexamethasone and frozen-thawed embryo transfer with an artificial cycle protocol of endometrium preparation should be the choice for infertile female patients with CYP17A1 deficiency.
(© 2023. BioMed Central Ltd., part of Springer Nature.)
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Full-term live birth in a woman with 17α-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report.
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Autor/in / Beteiligte Person: | Xi, S ; Yang, X ; Shan, X ; Xue, Q |
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Zeitschrift: | BMC women's health, Jg. 23 (2023-08-04), Heft 1, S. 408 |
Veröffentlichung: | [London] : BioMed Central, 2001-, 2023 |
Medientyp: | academicJournal |
ISSN: | 1472-6874 (electronic) |
DOI: | 10.1186/s12905-023-02492-z |
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